Canonical Allele Identifier: CA2338388862

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352508_45352511delinsTGTC , CM000681.2:g.45352508_45352511delinsTGTC	GRCh38
NC_000019.9:g.45855766_45855769delinsTGTC , CM000681.1:g.45855766_45855769delinsTGTC	GRCh37
NC_000019.8:g.50547606_50547609delinsTGTC	NCBI36
NG_007067.2:g.23077_23080delinsGACA , LRG_461:g.23077_23080delinsGACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2041_2044delinsGACA	ENSP00000375808.4:p.Asp681=
ENST00000682414.1:c.2041_2044delinsGACA	ENSP00000507019.1:p.Asp681=
ENST00000682508.1:n.2070_2073delinsGACA
ENST00000684218.1:c.*1299_*1302delinsGACA	ENSP00000507804.1:n.*1299_*1302delinsGACA...
ENST00000684264.1:n.1597_1600delinsGACA
ENST00000684407.1:c.1918_1921delinsGACA	ENSP00000507775.1:p.Asp640=
ENST00000684458.1:c.*527_*530delinsGACA	ENSP00000508260.1:n.*527_*530delinsGACA
ENST00000684468.1:n.1753_1756delinsGACA
ENST00000391945.10:c.2041_2044delinsGACA MANE Select	ENSP00000375809.4:p.Asp681=
ENST00000646507.1:n.2138_2141delinsGACA
ENST00000391941.6:c.1969_1972delinsGACA	ENSP00000375805.2:p.Asp657=
ENST00000391942.6:n.1212_1215delinsGACA
ENST00000391944.7:c.1807_1810delinsGACA	ENSP00000375808.3:p.Asp603=
ENST00000391945.8:c.2041_2044delinsGACA	ENSP00000375809.3:p.Asp681=
ENST00000588652.5:n.2129_2132delinsGACA
NM_000400.3:c.2041_2044delinsGACA , LRG_461t1:c.2041_2044delinsGACA	NP_000391.1:p.Asp681=
XM_011526611.1:c.1963_1966delinsGACA	XP_011524913.1:p.Asp655=
XM_011526611.2:c.1963_1966delinsGACA	XP_011524913.1:p.Asp655=
XM_017026467.1:c.1918_1921delinsGACA	XP_016881956.1:p.Asp640=
XR_001753633.2:n.2088_2091delinsGACA
XR_001753634.2:n.2024_2027delinsGACA
NM_000400.4:c.2041_2044delinsGACA MANE Select	NP_000391.1:p.Asp681=